Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 1 231474322 231474322 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 g.chr1:231474322G>C c.193G>C c.(193-195)Gag>Cag p.E65Q BLCA 1 231487325 231487325 + Intron SNP C C T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr1:231487325C>T BLCA 1 231488487 231488487 + Missense_Mutation SNP C C G TCGA-LT-A5Z6-01A-11D-A289-08 TCGA-LT-A5Z6-10A-01D-A289-08 g.chr1:231488487C>G c.850C>G c.(850-852)Ctt>Gtt p.L284V BLCA 1 231488506 231488506 + Missense_Mutation SNP C C T TCGA-LT-A5Z6-01A-11D-A289-08 TCGA-LT-A5Z6-10A-01D-A289-08 g.chr1:231488506C>T c.869C>T c.(868-870)tCa>tTa p.S290L BLCA 1 231489045 231489045 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 g.chr1:231489045G>A c.1408G>A c.(1408-1410)Gag>Aag p.E470K BRCA 1 231474280 231474280 + Nonsense_Mutation SNP C C T TCGA-E2-A108-01A-13D-A10M-09 TCGA-E2-A108-10A-01D-A10M-09 g.chr1:231474280C>T c.151C>T c.(151-153)Cag>Tag p.Q51* BRCA 1 231487140 231487140 + Missense_Mutation SNP G G A TCGA-A8-A09Z-01A-11W-A019-09 TCGA-A8-A09Z-10A-01W-A021-09 g.chr1:231487140G>A c.541G>A c.(541-543)Ggc>Agc p.G181S BRCA 1 231488731 231488731 + Missense_Mutation SNP C C G TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 g.chr1:231488731C>G c.1094C>G c.(1093-1095)tCt>tGt p.S365C BRCA 1 231488908 231488908 + Missense_Mutation SNP A A G TCGA-A8-A06U-01A-11W-A019-09 TCGA-A8-A06U-10A-01W-A021-09 g.chr1:231488908A>G c.1271A>G c.(1270-1272)aAa>aGa p.K424R BRCA 1 231489020 231489020 + Missense_Mutation SNP T T A TCGA-A8-A06X-01A-21W-A019-09 TCGA-A8-A06X-10A-01W-A021-09 g.chr1:231489020T>A c.1383T>A c.(1381-1383)aaT>aaA p.N461K CESC 1 231474190 231474190 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 g.chr1:231474190G>A c.61G>A c.(61-63)Gag>Aag p.E21K COAD 1 231474149 231474149 + Missense_Mutation SNP T T C TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr1:231474149T>C c.20T>C c.(19-21)tTg>tCg p.L7S COAD 1 231474217 231474217 + Missense_Mutation SNP T T C TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr1:231474217T>C c.88T>C c.(88-90)Tcg>Ccg p.S30P COAD 1 231483640 231483640 + Missense_Mutation SNP G G A TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr1:231483640G>A c.419G>A c.(418-420)cGc>cAc p.R140H COAD 1 231487264 231487264 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr1:231487264G>A c.665G>A c.(664-666)gGc>gAc p.G222D COAD 1 231487302 231487302 + Missense_Mutation SNP G G A TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr1:231487302G>A c.703G>A c.(703-705)Gcc>Acc p.A235T COAD 1 231488433 231488434 + In_Frame_Ins INS - - TAC TCGA-G4-6307-01A-11D-1719-10 TCGA-G4-6307-10A-01D-1720-10 g.chr1:231488433_231488434insTAC c.796_797insTAC c.(796-798)tta>tTACta p.266_266L>LL COAD 1 231488491 231488491 + Nonsense_Mutation SNP T T G TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr1:231488491T>G c.854T>G c.(853-855)tTa>tGa p.L285* COAD 1 231488784 231488784 + Missense_Mutation SNP T T C TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr1:231488784T>C c.1147T>C c.(1147-1149)Tca>Cca p.S383P COAD 1 231488884 231488884 + Frame_Shift_Del DEL T T - TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr1:231488884delT c.1247delT c.(1246-1248)gttfs p.V416fs COADREAD 1 231474149 231474149 + Missense_Mutation SNP T T C TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr1:231474149T>C c.20T>C c.(19-21)tTg>tCg p.L7S COADREAD 1 231474217 231474217 + Missense_Mutation SNP T T C TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr1:231474217T>C c.88T>C c.(88-90)Tcg>Ccg p.S30P COADREAD 1 231483640 231483640 + Missense_Mutation SNP G G A TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr1:231483640G>A c.419G>A c.(418-420)cGc>cAc p.R140H COADREAD 1 231487264 231487264 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr1:231487264G>A c.665G>A c.(664-666)gGc>gAc p.G222D COADREAD 1 231487302 231487302 + Missense_Mutation SNP G G A TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr1:231487302G>A c.703G>A c.(703-705)Gcc>Acc p.A235T COADREAD 1 231488433 231488434 + In_Frame_Ins INS - - TAC TCGA-G4-6307-01A-11D-1719-10 TCGA-G4-6307-10A-01D-1720-10 g.chr1:231488433_231488434insTAC c.796_797insTAC c.(796-798)tta>tTACta p.266_266L>LL COADREAD 1 231488491 231488491 + Nonsense_Mutation SNP T T G TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr1:231488491T>G c.854T>G c.(853-855)tTa>tGa p.L285* COADREAD 1 231488784 231488784 + Missense_Mutation SNP T T C TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr1:231488784T>C c.1147T>C c.(1147-1149)Tca>Cca p.S383P COADREAD 1 231488884 231488884 + Frame_Shift_Del DEL T T - TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr1:231488884delT c.1247delT c.(1246-1248)gttfs p.V416fs DLBC 1 231487133 231487133 + Silent SNP G G A TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr1:231487133G>A c.534G>A c.(532-534)ccG>ccA p.P178P ESCA 1 231488755 231488755 + Missense_Mutation SNP C C T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 g.chr1:231488755C>T c.1118C>T c.(1117-1119)tCa>tTa p.S373L ESCA 1 231489015 231489015 + Missense_Mutation SNP C C G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 g.chr1:231489015C>G c.1378C>G c.(1378-1380)Cag>Gag p.Q460E GBMLGG 1 231488995 231488995 + Missense_Mutation SNP T T C TCGA-VV-A829-01A-21D-A36O-08 TCGA-VV-A829-10A-01D-A367-08 g.chr1:231488995T>C c.1358T>C c.(1357-1359)aTg>aCg p.M453T HNSC 1 231488530 231488530 + Missense_Mutation SNP C C G TCGA-CR-7388-01A-11D-2012-08 TCGA-CR-7388-10A-01D-2013-08 g.chr1:231488530C>G c.893C>G c.(892-894)tCt>tGt p.S298C HNSC 1 231488769 231488769 + Missense_Mutation SNP T T C TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 g.chr1:231488769T>C c.1132T>C c.(1132-1134)Tcc>Ccc p.S378P HNSC 1 231489080 231489080 + Missense_Mutation SNP C C G TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 g.chr1:231489080C>G c.1443C>G c.(1441-1443)atC>atG p.I481M HNSC 1 231489093 231489093 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 g.chr1:231489093G>A c.1456G>A c.(1456-1458)Gaa>Aaa p.E486K KIPAN 1 231487063 231487063 + Missense_Mutation SNP T T G TCGA-EU-5904-01A-11D-1669-08 TCGA-EU-5904-10A-01D-1669-08 g.chr1:231487063T>G c.464T>G c.(463-465)tTt>tGt p.F155C KIPAN 1 231489083 231489083 + Silent SNP A A G TCGA-B0-4712-01A-01D-1501-10 TCGA-B0-4712-11A-02D-1501-10 g.chr1:231489083A>G c.1446A>G c.(1444-1446)aaA>aaG p.K482K KIRC 1 231487063 231487063 + Missense_Mutation SNP T T G TCGA-EU-5904-01A-11D-1669-08 TCGA-EU-5904-10A-01D-1669-08 g.chr1:231487063T>G c.464T>G c.(463-465)tTt>tGt p.F155C KIRC 1 231489083 231489083 + Silent SNP A A G TCGA-B0-4712-01A-01D-1501-10 TCGA-B0-4712-11A-02D-1501-10 g.chr1:231489083A>G c.1446A>G c.(1444-1446)aaA>aaG p.K482K LGG 1 231488995 231488995 + Missense_Mutation SNP T T C TCGA-VV-A829-01A-21D-A36O-08 TCGA-VV-A829-10A-01D-A367-08 g.chr1:231488995T>C c.1358T>C c.(1357-1359)aTg>aCg p.M453T LIHC 1 231488843 231488843 + Missense_Mutation SNP T T A TCGA-4R-AA8I-01A-11D-A382-10 TCGA-4R-AA8I-10B-01D-A385-10 g.chr1:231488843T>A c.1206T>A c.(1204-1206)gaT>gaA p.D402E LUAD 1 231474216 231474216 + Silent SNP G G T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 g.chr1:231474216G>T c.87G>T c.(85-87)ctG>ctT p.L29L LUAD 1 231474238 231474238 + Nonsense_Mutation SNP G G T TCGA-44-8120-01A-11D-2238-08 TCGA-44-8120-10A-01D-2238-08 g.chr1:231474238G>T c.109G>T c.(109-111)Gag>Tag p.E37* LUAD 1 231475546 231475546 + Missense_Mutation SNP G G A TCGA-55-8089-01A-11D-2238-08 TCGA-55-8089-10A-01D-2238-08 g.chr1:231475546G>A c.253G>A c.(253-255)Ggt>Agt p.G85S LUAD 1 231483582 231483582 + Missense_Mutation SNP A A G TCGA-17-Z057-01A-01W-0747-08 TCGA-17-Z057-11A-01W-0747-08 g.chr1:231483582A>G c.361A>G c.(361-363)Act>Gct p.T121A LUAD 1 231487114 231487114 + Missense_Mutation SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 g.chr1:231487114C>T c.515C>T c.(514-516)cCg>cTg p.P172L LUAD 1 231488891 231488891 + Silent SNP C C T TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr1:231488891C>T c.1254C>T c.(1252-1254)gaC>gaT p.D418D PAAD 1 231487087 231487087 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:231487087G>A c.488G>A c.(487-489)cGg>cAg p.R163Q SKCM 1 231475563 231475563 + Silent SNP C C T TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr1:231475563C>T c.270C>T c.(268-270)atC>atT p.I90I

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 1 231471875 231471875 single base substitution G A upstream_gene_variant BLCA-CN 1 231474345 231474345 single base substitution G A exon_variant BLCA-CN 1 231474345 231474345 single base substitution G A missense_variant M72I 216G>A BLCA-CN 1 231474345 231474345 single base substitution G A upstream_gene_variant BLCA-CN 1 231475612 231475612 single base substitution G A exon_variant BLCA-CN 1 231475612 231475612 single base substitution G A missense_variant E107K 319G>A BLCA-CN 1 231475612 231475612 single base substitution G A splice_region_variant BLCA-CN 1 231487052 231487052 single base substitution A G splice_region_variant BLCA-US 1 231471422 231471422 single base substitution C G upstream_gene_variant BLCA-US 1 231472148 231472148 single base substitution G A upstream_gene_variant BLCA-US 1 231472540 231472540 single base substitution C T upstream_gene_variant BLCA-US 1 231473029 231473029 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BLCA-US 1 231473029 231473029 single base substitution C T upstream_gene_variant BLCA-US 1 231473425 231473425 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant BLCA-US 1 231473425 231473425 single base substitution C G upstream_gene_variant BLCA-US 1 231474322 231474322 single base substitution G C exon_variant BLCA-US 1 231474322 231474322 single base substitution G C missense_variant E65Q 193G>C BLCA-US 1 231474322 231474322 single base substitution G C upstream_gene_variant BOCA-FR 1 231494062 231494062 single base substitution C T downstream_gene_variant BRCA-EU 1 231468510 231468510 single base substitution A C upstream_gene_variant BRCA-EU 1 231469476 231469476 single base substitution G C upstream_gene_variant BRCA-EU 1 231469589 231469589 single base substitution G A upstream_gene_variant BRCA-EU 1 231469707 231469707 single base substitution A G upstream_gene_variant BRCA-EU 1 231471065 231471067 deletion of <=200bp AGA - upstream_gene_variant BRCA-EU 1 231471082 231471082 single base substitution A T upstream_gene_variant BRCA-EU 1 231471580 231471580 single base substitution C T upstream_gene_variant BRCA-EU 1 231473365 231473365 single base substitution C T 5_prime_UTR_variant BRCA-EU 1 231473365 231473365 single base substitution C T upstream_gene_variant BRCA-EU 1 231473737 231473737 single base substitution G T 5_prime_UTR_variant BRCA-EU 1 231473737 231473737 single base substitution G T upstream_gene_variant BRCA-EU 1 231474205 231474205 single base substitution C T exon_variant BRCA-EU 1 231474205 231474205 single base substitution C T stop_gained Q26* 76C>T BRCA-EU 1 231474205 231474205 single base substitution C T upstream_gene_variant BRCA-EU 1 231475858 231475858 single base substitution C T downstream_gene_variant BRCA-EU 1 231475858 231475858 single base substitution C T intron_variant BRCA-EU 1 231476328 231476328 single base substitution A T downstream_gene_variant BRCA-EU 1 231476328 231476328 single base substitution A T intron_variant BRCA-EU 1 231477875 231477875 single base substitution G A downstream_gene_variant BRCA-EU 1 231477875 231477875 single base substitution G A intron_variant BRCA-EU 1 231478730 231478730 single base substitution G T downstream_gene_variant BRCA-EU 1 231478730 231478730 single base substitution G T intron_variant BRCA-EU 1 231478730 231478730 single base substitution G T upstream_gene_variant BRCA-EU 1 231480001 231480001 single base substitution G C downstream_gene_variant BRCA-EU 1 231480001 231480001 single base substitution G C intron_variant BRCA-EU 1 231480001 231480001 single base substitution G C upstream_gene_variant BRCA-EU 1 231480147 231480147 single base substitution G C downstream_gene_variant BRCA-EU 1 231480147 231480147 single base substitution G C intron_variant BRCA-EU 1 231480147 231480147 single base substitution G C upstream_gene_variant BRCA-EU 1 231480889 231480889 single base substitution C G intron_variant BRCA-EU 1 231480889 231480889 single base substitution C G upstream_gene_variant BRCA-EU 1 231480897 231480897 single base substitution T C intron_variant BRCA-EU 1 231480897 231480897 single base substitution T C upstream_gene_variant BRCA-EU 1 231481881 231481881 single base substitution C T intron_variant BRCA-EU 1 231481881 231481881 single base substitution C T upstream_gene_variant BRCA-EU 1 231482345 231482345 single base substitution A G intron_variant BRCA-EU 1 231482345 231482345 single base substitution A G upstream_gene_variant BRCA-EU 1 231482838 231482838 single base substitution C T intron_variant BRCA-EU 1 231482838 231482838 single base substitution C T upstream_gene_variant BRCA-EU 1 231483085 231483085 single base substitution A T intron_variant BRCA-EU 1 231483085 231483085 single base substitution A T upstream_gene_variant BRCA-EU 1 231484896 231484896 single base substitution T A intron_variant BRCA-EU 1 231485493 231485493 single base substitution C T intron_variant BRCA-EU 1 231486899 231486899 single base substitution T G intron_variant BRCA-EU 1 231487563 231487563 single base substitution T C 3_prime_UTR_variant BRCA-EU 1 231487563 231487563 single base substitution T C intron_variant BRCA-EU 1 231487976 231487976 single base substitution G A 3_prime_UTR_variant BRCA-EU 1 231487976 231487976 single base substitution G A intron_variant BRCA-EU 1 231491493 231491493 deletion of <=200bp T - downstream_gene_variant BRCA-EU 1 231491752 231491752 single base substitution C G downstream_gene_variant BRCA-EU 1 231492071 231492071 single base substitution G A downstream_gene_variant BRCA-EU 1 231492930 231492930 insertion of <=200bp - A downstream_gene_variant BRCA-EU 1 231493441 231493441 single base substitution G A downstream_gene_variant BRCA-EU 1 231493976 231493976 single base substitution C G downstream_gene_variant BRCA-EU 1 231494506 231494506 single base substitution C T downstream_gene_variant BRCA-EU 1 231495287 231495287 single base substitution T G downstream_gene_variant BRCA-EU 1 231495408 231495408 single base substitution T C downstream_gene_variant BRCA-EU 1 231495539 231495539 single base substitution C G downstream_gene_variant BRCA-FR 1 231469476 231469476 single base substitution G C upstream_gene_variant BRCA-FR 1 231473737 231473737 single base substitution G T 5_prime_UTR_variant BRCA-FR 1 231473737 231473737 single base substitution G T upstream_gene_variant BRCA-FR 1 231482838 231482838 single base substitution C T intron_variant BRCA-FR 1 231482838 231482838 single base substitution C T upstream_gene_variant BRCA-UK 1 231480001 231480001 single base substitution G C downstream_gene_variant BRCA-UK 1 231480001 231480001 single base substitution G C intron_variant BRCA-UK 1 231480001 231480001 single base substitution G C upstream_gene_variant BRCA-UK 1 231483085 231483085 single base substitution A T intron_variant BRCA-UK 1 231483085 231483085 single base substitution A T upstream_gene_variant BRCA-UK 1 231491656 231491656 single base substitution C G downstream_gene_variant BRCA-US 1 231472387 231472387 single base substitution C T upstream_gene_variant BRCA-US 1 231473410 231473410 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BRCA-US 1 231473410 231473410 single base substitution C T upstream_gene_variant BRCA-US 1 231474051 231474051 single base substitution C A 5_prime_UTR_variant BRCA-US 1 231474051 231474051 single base substitution C A exon_variant BRCA-US 1 231474051 231474051 single base substitution C A upstream_gene_variant BRCA-US 1 231474280 231474280 single base substitution C T exon_variant BRCA-US 1 231474280 231474280 single base substitution C T stop_gained Q51* 151C>T BRCA-US 1 231474280 231474280 single base substitution C T upstream_gene_variant BRCA-US 1 231487140 231487140 single base substitution G A exon_variant BRCA-US 1 231487140 231487140 single base substitution G A missense_variant G138S 412G>A BRCA-US 1 231487140 231487140 single base substitution G A missense_variant G181S 541G>A BRCA-US 1 231487140 231487140 single base substitution G A missense_variant G77S 229G>A BRCA-US 1 231488731 231488731 single base substitution C G 3_prime_UTR_variant BRCA-US 1 231488731 231488731 single base substitution C G downstream_gene_variant BRCA-US 1 231488731 231488731 single base substitution C G missense_variant S365C 1094C>G BRCA-US 1 231488908 231488908 single base substitution A G downstream_gene_variant BRCA-US 1 231488908 231488908 single base substitution A G missense_variant K424R 1271A>G BRCA-US 1 231489020 231489020 single base substitution T A downstream_gene_variant BRCA-US 1 231489020 231489020 single base substitution T A missense_variant N461K 1383T>A BTCA-JP 1 231472369 231472369 single base substitution G A upstream_gene_variant BTCA-JP 1 231473063 231473063 deletion of <=200bp G - 5_prime_UTR_variant BTCA-JP 1 231473063 231473063 deletion of <=200bp G - upstream_gene_variant BTCA-JP 1 231480507 231480507 single base substitution A G downstream_gene_variant BTCA-JP 1 231480507 231480507 single base substitution A G intron_variant BTCA-JP 1 231480507 231480507 single base substitution A G upstream_gene_variant BTCA-JP 1 231488362 231488362 single base substitution C G 3_prime_UTR_variant BTCA-JP 1 231488362 231488362 single base substitution C G downstream_gene_variant BTCA-JP 1 231488362 231488362 single base substitution C G exon_variant BTCA-JP 1 231488362 231488362 single base substitution C G missense_variant P138R 413C>G BTCA-JP 1 231488362 231488362 single base substitution C G missense_variant P242R 725C>G BTCA-JP 1 231488569 231488569 single base substitution A G 3_prime_UTR_variant BTCA-JP 1 231488569 231488569 single base substitution A G downstream_gene_variant BTCA-JP 1 231488569 231488569 single base substitution A G missense_variant K311R 932A>G BTCA-JP 1 231488746 231488746 single base substitution G A 3_prime_UTR_variant BTCA-JP 1 231488746 231488746 single base substitution G A downstream_gene_variant BTCA-JP 1 231488746 231488746 single base substitution G A missense_variant R370K 1109G>A CESC-US 1 231472064 231472064 single base substitution G C upstream_gene_variant CESC-US 1 231472148 231472148 single base substitution G C upstream_gene_variant CESC-US 1 231472604 231472604 single base substitution C T upstream_gene_variant CESC-US 1 231472726 231472726 single base substitution A C upstream_gene_variant CESC-US 1 231472834 231472834 single base substitution G A upstream_gene_variant CESC-US 1 231473335 231473335 single base substitution C T 5_prime_UTR_variant CESC-US 1 231473335 231473335 single base substitution C T upstream_gene_variant CESC-US 1 231474190 231474190 single base substitution G A exon_variant CESC-US 1 231474190 231474190 single base substitution G A missense_variant E21K 61G>A CESC-US 1 231474190 231474190 single base substitution G A upstream_gene_variant CLLE-ES 1 231495263 231495263 single base substitution C T downstream_gene_variant COAD-US 1 231472162 231472162 single base substitution G A upstream_gene_variant COAD-US 1 231472815 231472815 single base substitution C T upstream_gene_variant COAD-US 1 231483640 231483640 single base substitution G A exon_variant COAD-US 1 231483640 231483640 single base substitution G A intron_variant COAD-US 1 231483640 231483640 single base substitution G A missense_variant R140H 419G>A COAD-US 1 231483640 231483640 single base substitution G A missense_variant R36H 107G>A COAD-US 1 231487256 231487256 deletion of <=200bp A - exon_variant COAD-US 1 231487256 231487256 deletion of <=200bp A - frameshift_variant S115 COAD-US 1 231487256 231487256 deletion of <=200bp A - frameshift_variant S176 COAD-US 1 231487256 231487256 deletion of <=200bp A - frameshift_variant S219 COAD-US 1 231487302 231487302 single base substitution G A exon_variant COAD-US 1 231487302 231487302 single base substitution G A missense_variant A131T 391G>A COAD-US 1 231487302 231487302 single base substitution G A missense_variant A192T 574G>A COAD-US 1 231487302 231487302 single base substitution G A missense_variant A235T 703G>A COAD-US 1 231488433 231488433 insertion of <=200bp - TAC 3_prime_UTR_variant COAD-US 1 231488433 231488433 insertion of <=200bp - TAC downstream_gene_variant COAD-US 1 231488433 231488433 insertion of <=200bp - TAC exon_variant COAD-US 1 231488433 231488433 insertion of <=200bp - TAC inframe_insertion L162YL COAD-US 1 231488433 231488433 insertion of <=200bp - TAC inframe_insertion L266YL COAD-US 1 231488491 231488491 single base substitution T G 3_prime_UTR_variant COAD-US 1 231488491 231488491 single base substitution T G downstream_gene_variant COAD-US 1 231488491 231488491 single base substitution T G exon_variant COAD-US 1 231488491 231488491 single base substitution T G stop_gained L181* 542T>G COAD-US 1 231488491 231488491 single base substitution T G stop_gained L285* 854T>G COAD-US 1 231488784 231488784 single base substitution T C 3_prime_UTR_variant COAD-US 1 231488784 231488784 single base substitution T C downstream_gene_variant COAD-US 1 231488784 231488784 single base substitution T C missense_variant S383P 1147T>C COCA-CN 1 231471542 231471542 single base substitution G T upstream_gene_variant COCA-CN 1 231472303 231472303 single base substitution C T upstream_gene_variant COCA-CN 1 231475598 231475598 single base substitution G T 5_prime_UTR_variant COCA-CN 1 231475598 231475598 single base substitution G T exon_variant COCA-CN 1 231475598 231475598 single base substitution G T missense_variant R102I 305G>T COCA-CN 1 231483640 231483640 single base substitution G A exon_variant COCA-CN 1 231483640 231483640 single base substitution G A intron_variant COCA-CN 1 231483640 231483640 single base substitution G A missense_variant R140H 419G>A COCA-CN 1 231483640 231483640 single base substitution G A missense_variant R36H 107G>A COCA-CN 1 231487102 231487102 single base substitution G A exon_variant COCA-CN 1 231487102 231487102 single base substitution G A missense_variant R125H 374G>A COCA-CN 1 231487102 231487102 single base substitution G A missense_variant R168H 503G>A COCA-CN 1 231487102 231487102 single base substitution G A missense_variant R64H 191G>A COCA-CN 1 231487170 231487170 single base substitution C T exon_variant COCA-CN 1 231487170 231487170 single base substitution C T missense_variant P148S 442C>T COCA-CN 1 231487170 231487170 single base substitution C T missense_variant P191S 571C>T COCA-CN 1 231487170 231487170 single base substitution C T missense_variant P87S 259C>T COCA-CN 1 231488794 231488794 single base substitution C T 3_prime_UTR_variant COCA-CN 1 231488794 231488794 single base substitution C T downstream_gene_variant COCA-CN 1 231488794 231488794 single base substitution C T missense_variant T386M 1157C>T EOPC-DE 1 231480152 231480152 single base substitution A C downstream_gene_variant EOPC-DE 1 231480152 231480152 single base substitution A C intron_variant EOPC-DE 1 231480152 231480152 single base substitution A C upstream_gene_variant ESAD-UK 1 231468079 231468079 single base substitution C T upstream_gene_variant ESAD-UK 1 231469418 231469418 single base substitution T A upstream_gene_variant ESAD-UK 1 231469419 231469419 single base substitution C A upstream_gene_variant ESAD-UK 1 231469420 231469420 single base substitution C T upstream_gene_variant ESAD-UK 1 231469946 231469946 single base substitution G A upstream_gene_variant ESAD-UK 1 231471752 231471752 single base substitution C G upstream_gene_variant ESAD-UK 1 231472034 231472034 single base substitution G C upstream_gene_variant ESAD-UK 1 231472297 231472297 deletion of <=200bp A - upstream_gene_variant ESAD-UK 1 231476475 231476475 single base substitution C T downstream_gene_variant ESAD-UK 1 231476475 231476475 single base substitution C T intron_variant ESAD-UK 1 231479776 231479776 single base substitution A G downstream_gene_variant ESAD-UK 1 231479776 231479776 single base substitution A G intron_variant ESAD-UK 1 231479776 231479776 single base substitution A G upstream_gene_variant ESAD-UK 1 231482368 231482368 single base substitution T A intron_variant ESAD-UK 1 231482368 231482368 single base substitution T A upstream_gene_variant ESAD-UK 1 231483100 231483100 insertion of <=200bp - TTG intron_variant ESAD-UK 1 231483100 231483100 insertion of <=200bp - TTG upstream_gene_variant ESAD-UK 1 231489252 231489252 single base substitution C T 3_prime_UTR_variant ESAD-UK 1 231489252 231489252 single base substitution C T downstream_gene_variant ESAD-UK 1 231490008 231490008 single base substitution A T 3_prime_UTR_variant ESAD-UK 1 231490008 231490008 single base substitution A T downstream_gene_variant ESAD-UK 1 231493722 231493722 single base substitution A G downstream_gene_variant ESAD-UK 1 231493985 231493985 insertion of <=200bp - CT downstream_gene_variant ESAD-UK 1 231494118 231494118 single base substitution G A downstream_gene_variant ESAD-UK 1 231495258 231495258 single base substitution T G downstream_gene_variant ESCA-CN 1 231472915 231472915 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant ESCA-CN 1 231472915 231472915 single base substitution C T upstream_gene_variant ESCA-CN 1 231483646 231483646 single base substitution A G exon_variant ESCA-CN 1 231483646 231483646 single base substitution A G intron_variant ESCA-CN 1 231483646 231483646 single base substitution A G missense_variant N142S 425A>G ESCA-CN 1 231483646 231483646 single base substitution A G missense_variant N38S 113A>G GACA-CN 1 231471887 231471887 single base substitution G A upstream_gene_variant KIRC-US 1 231487063 231487063 single base substitution T G exon_variant KIRC-US 1 231487063 231487063 single base substitution T G missense_variant F112C 335T>G KIRC-US 1 231487063 231487063 single base substitution T G missense_variant F155C 464T>G KIRC-US 1 231487063 231487063 single base substitution T G missense_variant F51C 152T>G KIRC-US 1 231489083 231489083 single base substitution A G downstream_gene_variant KIRC-US 1 231489083 231489083 single base substitution A G synonymous_variant K482K 1446A>G KIRP-US 1 231472205 231472205 single base substitution C A upstream_gene_variant KIRP-US 1 231472695 231472695 single base substitution T A upstream_gene_variant LAML-KR 1 231474409 231474409 single base substitution G T intron_variant LAML-KR 1 231474409 231474409 single base substitution G T upstream_gene_variant LAML-KR 1 231480904 231480904 single base substitution G T intron_variant LAML-KR 1 231480904 231480904 single base substitution G T upstream_gene_variant LICA-CN 1 231472752 231472752 single base substitution A T upstream_gene_variant LICA-CN 1 231473158 231473158 single base substitution C A 5_prime_UTR_variant LICA-CN 1 231473158 231473158 single base substitution C A upstream_gene_variant LICA-FR 1 231473259 231473259 single base substitution G A 5_prime_UTR_variant LICA-FR 1 231473259 231473259 single base substitution G A upstream_gene_variant LICA-FR 1 231473409 231473409 single base substitution A T 5_prime_UTR_variant LICA-FR 1 231473409 231473409 single base substitution A T upstream_gene_variant LICA-FR 1 231475794 231475794 insertion of <=200bp - A exon_variant LICA-FR 1 231475794 231475794 insertion of <=200bp - A intron_variant LIHC-US 1 231471360 231471360 single base substitution G C upstream_gene_variant LINC-JP 1 231469615 231469615 single base substitution C A upstream_gene_variant LINC-JP 1 231471529 231471529 single base substitution C A upstream_gene_variant LINC-JP 1 231472602 231472602 single base substitution G A upstream_gene_variant LINC-JP 1 231475808 231475808 single base substitution C A downstream_gene_variant LINC-JP 1 231475808 231475808 single base substitution C A intron_variant LINC-JP 1 231480416 231480416 single base substitution G C 5_prime_UTR_variant LINC-JP 1 231480416 231480416 single base substitution G C downstream_gene_variant LINC-JP 1 231480416 231480416 single base substitution G C intron_variant LINC-JP 1 231480416 231480416 single base substitution G C upstream_gene_variant LINC-JP 1 231482562 231482562 single base substitution C G intron_variant LINC-JP 1 231482562 231482562 single base substitution C G upstream_gene_variant LINC-JP 1 231488570 231488570 single base substitution A C 3_prime_UTR_variant LINC-JP 1 231488570 231488570 single base substitution A C downstream_gene_variant LINC-JP 1 231488570 231488570 single base substitution A C missense_variant K311N 933A>C LINC-JP 1 231488795 231488795 single base substitution G A 3_prime_UTR_variant LINC-JP 1 231488795 231488795 single base substitution G A downstream_gene_variant LINC-JP 1 231488795 231488795 single base substitution G A synonymous_variant T386T 1158G>A LINC-JP 1 231489885 231489885 single base substitution A C 3_prime_UTR_variant LINC-JP 1 231489885 231489885 single base substitution A C downstream_gene_variant LINC-JP 1 231490494 231490494 single base substitution T G 3_prime_UTR_variant LINC-JP 1 231490494 231490494 single base substitution T G downstream_gene_variant LIRI-JP 1 231469242 231469242 single base substitution T C upstream_gene_variant LIRI-JP 1 231469306 231469306 single base substitution A C upstream_gene_variant LIRI-JP 1 231474455 231474455 single base substitution G T intron_variant LIRI-JP 1 231474455 231474455 single base substitution G T upstream_gene_variant LIRI-JP 1 231476130 231476130 single base substitution C A downstream_gene_variant LIRI-JP 1 231476130 231476130 single base substitution C A intron_variant LIRI-JP 1 231476515 231476515 single base substitution G C downstream_gene_variant LIRI-JP 1 231476515 231476515 single base substitution G C intron_variant LIRI-JP 1 231477033 231477033 single base substitution A C downstream_gene_variant LIRI-JP 1 231477033 231477033 single base substitution A C intron_variant LIRI-JP 1 231479739 231479739 single base substitution T A downstream_gene_variant LIRI-JP 1 231479739 231479739 single base substitution T A intron_variant LIRI-JP 1 231479739 231479739 single base substitution T A upstream_gene_variant LIRI-JP 1 231485097 231485097 single base substitution A G intron_variant LIRI-JP 1 231487522 231487522 single base substitution A C 3_prime_UTR_variant LIRI-JP 1 231487522 231487522 single base substitution A C intron_variant LIRI-JP 1 231487828 231487828 single base substitution G T 3_prime_UTR_variant LIRI-JP 1 231487828 231487828 single base substitution G T intron_variant LIRI-JP 1 231489247 231489247 single base substitution A T 3_prime_UTR_variant LIRI-JP 1 231489247 231489247 single base substitution A T downstream_gene_variant LIRI-JP 1 231490118 231490118 single base substitution A C 3_prime_UTR_variant LIRI-JP 1 231490118 231490118 single base substitution A C downstream_gene_variant LIRI-JP 1 231491721 231491721 single base substitution T G downstream_gene_variant LIRI-JP 1 231494894 231494894 single base substitution T A downstream_gene_variant LIRI-JP 1 231495658 231495658 single base substitution G A downstream_gene_variant LUSC-KR 1 231473718 231473718 single base substitution G A 5_prime_UTR_variant LUSC-KR 1 231473718 231473718 single base substitution G A upstream_gene_variant LUSC-KR 1 231475875 231475875 single base substitution G A downstream_gene_variant LUSC-KR 1 231475875 231475875 single base substitution G A intron_variant LUSC-KR 1 231483200 231483200 single base substitution A T intron_variant LUSC-KR 1 231483200 231483200 single base substitution A T upstream_gene_variant LUSC-KR 1 231486177 231486177 single base substitution T A intron_variant LUSC-KR 1 231487990 231487990 single base substitution G A 3_prime_UTR_variant LUSC-KR 1 231487990 231487990 single base substitution G A intron_variant LUSC-KR 1 231492955 231492955 single base substitution G C downstream_gene_variant LUSC-US 1 231473325 231473325 single base substitution G C 5_prime_UTR_variant LUSC-US 1 231473325 231473325 single base substitution G C upstream_gene_variant MALY-DE 1 231471749 231471749 single base substitution C T upstream_gene_variant MALY-DE 1 231473578 231473578 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MALY-DE 1 231473578 231473578 single base substitution C T upstream_gene_variant MALY-DE 1 231473724 231473724 single base substitution C T 5_prime_UTR_variant MALY-DE 1 231473724 231473724 single base substitution C T upstream_gene_variant MALY-DE 1 231479072 231479073 deletion of <=200bp TA - downstream_gene_variant MALY-DE 1 231479072 231479073 deletion of <=200bp TA - intron_variant MALY-DE 1 231479072 231479073 deletion of <=200bp TA - upstream_gene_variant MALY-DE 1 231479696 231479696 single base substitution C T downstream_gene_variant MALY-DE 1 231479696 231479696 single base substitution C T intron_variant MALY-DE 1 231479696 231479696 single base substitution C T upstream_gene_variant MALY-DE 1 231481901 231481901 single base substitution T A intron_variant MALY-DE 1 231481901 231481901 single base substitution T A upstream_gene_variant MALY-DE 1 231486577 231486577 single base substitution T G intron_variant MALY-DE 1 231489675 231489675 single base substitution A G 3_prime_UTR_variant MALY-DE 1 231489675 231489675 single base substitution A G downstream_gene_variant MALY-DE 1 231490008 231490008 insertion of <=200bp - A 3_prime_UTR_variant MALY-DE 1 231490008 231490008 insertion of <=200bp - A downstream_gene_variant MALY-DE 1 231492583 231492583 single base substitution C A downstream_gene_variant MALY-DE 1 231493723 231493723 single base substitution G A downstream_gene_variant MALY-DE 1 231494248 231494248 insertion of <=200bp - AAAAAAAAA downstream_gene_variant MELA-AU 1 231468270 231468270 single base substitution G A upstream_gene_variant MELA-AU 1 231468718 231468718 single base substitution G A upstream_gene_variant MELA-AU 1 231469004 231469004 single base substitution T C upstream_gene_variant MELA-AU 1 231470965 231470965 single base substitution G A upstream_gene_variant MELA-AU 1 231471434 231471434 single base substitution G A upstream_gene_variant MELA-AU 1 231471580 231471580 single base substitution C T upstream_gene_variant MELA-AU 1 231472759 231472759 single base substitution G A upstream_gene_variant MELA-AU 1 231473664 231473664 single base substitution G A 5_prime_UTR_variant MELA-AU 1 231473664 231473664 single base substitution G A upstream_gene_variant MELA-AU 1 231473698 231473698 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 1 231473698 231473698 single base substitution C T upstream_gene_variant MELA-AU 1 231473700 231473700 single base substitution G A 5_prime_UTR_variant MELA-AU 1 231473700 231473700 single base substitution G A upstream_gene_variant MELA-AU 1 231473732 231473732 single base substitution G A 5_prime_UTR_variant MELA-AU 1 231473732 231473732 single base substitution G A upstream_gene_variant MELA-AU 1 231473741 231473741 single base substitution G A 5_prime_UTR_variant MELA-AU 1 231473741 231473741 single base substitution G A upstream_gene_variant MELA-AU 1 231473746 231473746 single base substitution G A 5_prime_UTR_variant MELA-AU 1 231473746 231473746 single base substitution G A upstream_gene_variant MELA-AU 1 231473839 231473839 single base substitution C T 5_prime_UTR_variant MELA-AU 1 231473839 231473839 single base substitution C T upstream_gene_variant MELA-AU 1 231473844 231473844 single base substitution A G 5_prime_UTR_variant MELA-AU 1 231473844 231473844 single base substitution A G upstream_gene_variant MELA-AU 1 231474634 231474634 single base substitution A C intron_variant MELA-AU 1 231474634 231474634 single base substitution A C upstream_gene_variant MELA-AU 1 231474682 231474682 single base substitution G A intron_variant MELA-AU 1 231474682 231474682 single base substitution G A upstream_gene_variant MELA-AU 1 231474885 231474885 single base substitution C T intron_variant MELA-AU 1 231474885 231474885 single base substitution C T upstream_gene_variant MELA-AU 1 231475300 231475300 single base substitution C T intron_variant MELA-AU 1 231475891 231475891 single base substitution G A downstream_gene_variant MELA-AU 1 231475891 231475891 single base substitution G A intron_variant MELA-AU 1 231476143 231476143 single base substitution C T downstream_gene_variant MELA-AU 1 231476143 231476143 single base substitution C T intron_variant MELA-AU 1 231476426 231476426 single base substitution G A downstream_gene_variant MELA-AU 1 231476426 231476426 single base substitution G A intron_variant MELA-AU 1 231476894 231476894 single base substitution A G downstream_gene_variant MELA-AU 1 231476894 231476894 single base substitution A G intron_variant MELA-AU 1 231477402 231477402 single base substitution T C downstream_gene_variant MELA-AU 1 231477402 231477402 single base substitution T C intron_variant MELA-AU 1 231477661 231477661 single base substitution G A downstream_gene_variant MELA-AU 1 231477661 231477661 single base substitution G A intron_variant MELA-AU 1 231478228 231478228 single base substitution G A downstream_gene_variant MELA-AU 1 231478228 231478228 single base substitution G A intron_variant MELA-AU 1 231478550 231478550 single base substitution C T downstream_gene_variant MELA-AU 1 231478550 231478550 single base substitution C T intron_variant MELA-AU 1 231478550 231478550 single base substitution C T upstream_gene_variant MELA-AU 1 231478629 231478629 single base substitution C A downstream_gene_variant MELA-AU 1 231478629 231478629 single base substitution C A intron_variant MELA-AU 1 231478629 231478629 single base substitution C A upstream_gene_variant MELA-AU 1 231478645 231478645 single base substitution C T downstream_gene_variant MELA-AU 1 231478645 231478645 single base substitution C T intron_variant MELA-AU 1 231478645 231478645 single base substitution C T upstream_gene_variant MELA-AU 1 231479842 231479842 single base substitution C T downstream_gene_variant MELA-AU 1 231479842 231479842 single base substitution C T intron_variant MELA-AU 1 231479842 231479842 single base substitution C T upstream_gene_variant MELA-AU 1 231480283 231480283 single base substitution C T downstream_gene_variant MELA-AU 1 231480283 231480283 single base substitution C T intron_variant MELA-AU 1 231480283 231480283 single base substitution C T upstream_gene_variant MELA-AU 1 231480854 231480854 single base substitution C T intron_variant MELA-AU 1 231480854 231480854 single base substitution C T upstream_gene_variant MELA-AU 1 231481180 231481180 single base substitution C T intron_variant MELA-AU 1 231481180 231481180 single base substitution C T upstream_gene_variant MELA-AU 1 231481446 231481446 single base substitution C T intron_variant MELA-AU 1 231481446 231481446 single base substitution C T upstream_gene_variant MELA-AU 1 231481787 231481787 single base substitution C T intron_variant MELA-AU 1 231481787 231481787 single base substitution C T upstream_gene_variant MELA-AU 1 231482769 231482769 single base substitution C A intron_variant MELA-AU 1 231482769 231482769 single base substitution C A upstream_gene_variant MELA-AU 1 231484480 231484480 single base substitution C T intron_variant MELA-AU 1 231484839 231484839 single base substitution C T intron_variant MELA-AU 1 231485363 231485363 single base substitution A G intron_variant MELA-AU 1 231485791 231485791 single base substitution C G intron_variant MELA-AU 1 231485793 231485793 single base substitution C T intron_variant MELA-AU 1 231485843 231485843 single base substitution C T intron_variant MELA-AU 1 231486828 231486828 single base substitution A T intron_variant MELA-AU 1 231487057 231487057 single base substitution A T exon_variant MELA-AU 1 231487057 231487057 single base substitution A T missense_variant H110L 329A>T MELA-AU 1 231487057 231487057 single base substitution A T missense_variant H153L 458A>T MELA-AU 1 231487057 231487057 single base substitution A T missense_variant H49L 146A>T MELA-AU 1 231488419 231488419 single base substitution G A 3_prime_UTR_variant MELA-AU 1 231488419 231488419 single base substitution G A downstream_gene_variant MELA-AU 1 231488419 231488419 single base substitution G A exon_variant MELA-AU 1 231488419 231488419 single base substitution G A missense_variant G157E 470G>A MELA-AU 1 231488419 231488419 single base substitution G A missense_variant G261E 782G>A MELA-AU 1 231488530 231488530 single base substitution C T 3_prime_UTR_variant MELA-AU 1 231488530 231488530 single base substitution C T downstream_gene_variant MELA-AU 1 231488530 231488530 single base substitution C T missense_variant S298F 893C>T MELA-AU 1 231490290 231490290 single base substitution C T 3_prime_UTR_variant MELA-AU 1 231490290 231490290 single base substitution C T downstream_gene_variant MELA-AU 1 231490886 231490886 single base substitution T C downstream_gene_variant MELA-AU 1 231491074 231491074 single base substitution C T downstream_gene_variant MELA-AU 1 231492465 231492465 single base substitution G A downstream_gene_variant ORCA-IN 1 231487126 231487126 single base substitution G A exon_variant ORCA-IN 1 231487126 231487126 single base substitution G A missense_variant R133K 398G>A ORCA-IN 1 231487126 231487126 single base substitution G A missense_variant R176K 527G>A ORCA-IN 1 231487126 231487126 single base substitution G A missense_variant R72K 215G>A OV-AU 1 231470600 231470600 single base substitution C A upstream_gene_variant OV-AU 1 231477517 231477517 single base substitution G C downstream_gene_variant OV-AU 1 231477517 231477517 single base substitution G C intron_variant OV-AU 1 231485229 231485229 single base substitution G C intron_variant OV-AU 1 231485529 231485529 single base substitution G A intron_variant OV-AU 1 231485908 231485908 single base substitution C G intron_variant OV-AU 1 231489220 231489220 single base substitution T C 3_prime_UTR_variant OV-AU 1 231489220 231489220 single base substitution T C downstream_gene_variant PACA-AU 1 231478873 231478873 single base substitution A G downstream_gene_variant PACA-AU 1 231478873 231478873 single base substitution A G intron_variant PACA-AU 1 231478873 231478873 single base substitution A G upstream_gene_variant PACA-AU 1 231479438 231479438 single base substitution C G downstream_gene_variant PACA-AU 1 231479438 231479438 single base substitution C G intron_variant PACA-AU 1 231479438 231479438 single base substitution C G upstream_gene_variant PACA-AU 1 231481194 231481194 single base substitution C T intron_variant PACA-AU 1 231481194 231481194 single base substitution C T upstream_gene_variant PACA-AU 1 231481572 231481572 single base substitution G T intron_variant PACA-AU 1 231481572 231481572 single base substitution G T upstream_gene_variant PACA-AU 1 231482397 231482397 single base substitution T C intron_variant PACA-AU 1 231482397 231482397 single base substitution T C upstream_gene_variant PACA-AU 1 231488656 231488656 insertion of <=200bp - A 3_prime_UTR_variant PACA-AU 1 231488656 231488656 insertion of <=200bp - A downstream_gene_variant PACA-AU 1 231488656 231488656 insertion of <=200bp - A frameshift_variant Q340Q? PACA-AU 1 231489093 231489093 single base substitution G A downstream_gene_variant PACA-AU 1 231489093 231489093 single base substitution G A missense_variant E486K 1456G>A PACA-AU 1 231493269 231493269 single base substitution T C downstream_gene_variant PACA-AU 1 231493388 231493388 single base substitution T C downstream_gene_variant PACA-CA 1 231470686 231470686 single base substitution G A upstream_gene_variant PACA-CA 1 231470968 231470968 single base substitution G A upstream_gene_variant PACA-CA 1 231471616 231471616 single base substitution C T upstream_gene_variant PACA-CA 1 231471676 231471676 single base substitution C T upstream_gene_variant PACA-CA 1 231472374 231472374 single base substitution G T upstream_gene_variant PACA-CA 1 231473505 231473505 single base substitution T C 5_prime_UTR_variant PACA-CA 1 231473505 231473505 single base substitution T C upstream_gene_variant PACA-CA 1 231475883 231475883 single base substitution C T downstream_gene_variant PACA-CA 1 231475883 231475883 single base substitution C T intron_variant PACA-CA 1 231478055 231478055 single base substitution T C downstream_gene_variant PACA-CA 1 231478055 231478055 single base substitution T C intron_variant PACA-CA 1 231479964 231479964 single base substitution G A downstream_gene_variant PACA-CA 1 231479964 231479964 single base substitution G A intron_variant PACA-CA 1 231479964 231479964 single base substitution G A upstream_gene_variant PACA-CA 1 231483601 231483601 single base substitution G A exon_variant PACA-CA 1 231483601 231483601 single base substitution G A intron_variant PACA-CA 1 231483601 231483601 single base substitution G A missense_variant R127Q 380G>A PACA-CA 1 231483601 231483601 single base substitution G A missense_variant R23Q 68G>A PACA-CA 1 231484895 231484895 single base substitution A T intron_variant PACA-CA 1 231490825 231490825 single base substitution C G downstream_gene_variant PACA-CA 1 231495257 231495257 deletion of <=200bp T - downstream_gene_variant PBCA-DE 1 231475704 231475704 single base substitution G A exon_variant PBCA-DE 1 231475704 231475704 single base substitution G A intron_variant PBCA-DE 1 231479072 231479073 deletion of <=200bp TA - downstream_gene_variant PBCA-DE 1 231479072 231479073 deletion of <=200bp TA - intron_variant PBCA-DE 1 231479072 231479073 deletion of <=200bp TA - upstream_gene_variant PBCA-DE 1 231484896 231484896 insertion of <=200bp - T intron_variant PBCA-DE 1 231489874 231489874 single base substitution A T 3_prime_UTR_variant PBCA-DE 1 231489874 231489874 single base substitution A T downstream_gene_variant PRAD-CA 1 231469522 231469522 single base substitution C G upstream_gene_variant PRAD-CA 1 231473984 231473984 single base substitution G T 5_prime_UTR_variant PRAD-CA 1 231473984 231473984 single base substitution G T upstream_gene_variant PRAD-CA 1 231474655 231474655 single base substitution T G intron_variant PRAD-CA 1 231474655 231474655 single base substitution T G upstream_gene_variant PRAD-CA 1 231495748 231495748 single base substitution C T downstream_gene_variant PRAD-UK 1 231485149 231485149 single base substitution T C intron_variant PRAD-UK 1 231494427 231494427 single base substitution T G downstream_gene_variant PRAD-US 1 231471575 231471575 single base substitution C T upstream_gene_variant READ-US 1 231472265 231472265 single base substitution C A upstream_gene_variant READ-US 1 231472330 231472330 single base substitution G A upstream_gene_variant READ-US 1 231472627 231472627 single base substitution G A upstream_gene_variant READ-US 1 231487247 231487247 single base substitution G T exon_variant READ-US 1 231487247 231487247 single base substitution G T missense_variant E112D 336G>T READ-US 1 231487247 231487247 single base substitution G T missense_variant E173D 519G>T READ-US 1 231487247 231487247 single base substitution G T missense_variant E216D 648G>T READ-US 1 231487287 231487287 single base substitution A C exon_variant READ-US 1 231487287 231487287 single base substitution A C missense_variant K126Q 376A>C READ-US 1 231487287 231487287 single base substitution A C missense_variant K187Q 559A>C READ-US 1 231487287 231487287 single base substitution A C missense_variant K230Q 688A>C RECA-EU 1 231486975 231486975 single base substitution A G intron_variant SKCA-BR 1 231474463 231474463 single base substitution A G intron_variant SKCA-BR 1 231474463 231474463 single base substitution A G upstream_gene_variant SKCA-BR 1 231474768 231474768 single base substitution G A intron_variant SKCA-BR 1 231474768 231474768 single base substitution G A upstream_gene_variant SKCA-BR 1 231475584 231475584 single base substitution G A 5_prime_UTR_variant SKCA-BR 1 231475584 231475584 single base substitution G A exon_variant SKCA-BR 1 231475584 231475584 single base substitution G A synonymous_variant L97L 291G>A SKCA-BR 1 231475955 231475955 single base substitution T A downstream_gene_variant SKCA-BR 1 231475955 231475955 single base substitution T A intron_variant SKCA-BR 1 231478370 231478370 single base substitution T G downstream_gene_variant SKCA-BR 1 231478370 231478370 single base substitution T G intron_variant SKCA-BR 1 231484662 231484662 single base substitution T A intron_variant SKCA-BR 1 231489467 231489467 single base substitution T C 3_prime_UTR_variant SKCA-BR 1 231489467 231489467 single base substitution T C downstream_gene_variant SKCA-BR 1 231491475 231491475 single base substitution A G downstream_gene_variant SKCA-BR 1 231493597 231493598 deletion of <=200bp TA - downstream_gene_variant SKCA-BR 1 231494247 231494247 insertion of <=200bp - CAAAAAAAAA downstream_gene_variant SKCA-BR 1 231494559 231494559 single base substitution T G downstream_gene_variant SKCM-US 1 231475563 231475563 single base substitution C T 5_prime_UTR_variant SKCM-US 1 231475563 231475563 single base substitution C T exon_variant SKCM-US 1 231475563 231475563 single base substitution C T synonymous_variant I90I 270C>T STAD-US 1 231471450 231471450 deletion of <=200bp A - upstream_gene_variant STAD-US 1 231471552 231471552 single base substitution A G upstream_gene_variant STAD-US 1 231471747 231471747 single base substitution G A upstream_gene_variant STAD-US 1 231471819 231471819 single base substitution T C upstream_gene_variant STAD-US 1 231471824 231471824 single base substitution G A upstream_gene_variant STAD-US 1 231472437 231472438 deletion of <=200bp TC - upstream_gene_variant STAD-US 1 231472660 231472660 single base substitution C T upstream_gene_variant STAD-US 1 231473363 231473363 single base substitution C A 5_prime_UTR_variant STAD-US 1 231473363 231473363 single base substitution C A upstream_gene_variant STAD-US 1 231474173 231474173 single base substitution G T exon_variant STAD-US 1 231474173 231474173 single base substitution G T missense_variant W15L 44G>T STAD-US 1 231474173 231474173 single base substitution G T upstream_gene_variant STAD-US 1 231487108 231487108 single base substitution A G exon_variant STAD-US 1 231487108 231487108 single base substitution A G missense_variant N127S 380A>G STAD-US 1 231487108 231487108 single base substitution A G missense_variant N170S 509A>G STAD-US 1 231487108 231487108 single base substitution A G missense_variant N66S 197A>G STAD-US 1 231487299 231487299 single base substitution T G exon_variant STAD-US 1 231487299 231487299 single base substitution T G missense_variant L130V 388T>G STAD-US 1 231487299 231487299 single base substitution T G missense_variant L191V 571T>G STAD-US 1 231487299 231487299 single base substitution T G missense_variant L234V 700T>G STAD-US 1 231488454 231488454 single base substitution A T 3_prime_UTR_variant STAD-US 1 231488454 231488454 single base substitution A T downstream_gene_variant STAD-US 1 231488454 231488454 single base substitution A T exon_variant STAD-US 1 231488454 231488454 single base substitution A T missense_variant I169F 505A>T STAD-US 1 231488454 231488454 single base substitution A T missense_variant I273F 817A>T STAD-US 1 231488616 231488616 single base substitution G A 3_prime_UTR_variant STAD-US 1 231488616 231488616 single base substitution G A downstream_gene_variant STAD-US 1 231488616 231488616 single base substitution G A missense_variant V327I 979G>A STAD-US 1 231488893 231488893 insertion of <=200bp - T downstream_gene_variant STAD-US 1 231488893 231488893 insertion of <=200bp - T frameshift_variant N419I? STAD-US 1 231488894 231488894 insertion of <=200bp - T downstream_gene_variant STAD-US 1 231488894 231488894 insertion of <=200bp - T frameshift_variant N419N? THCA-SA 1 231472046 231472046 single base substitution G A upstream_gene_variant UCEC-US 1 231471626 231471626 single base substitution T C upstream_gene_variant UCEC-US 1 231471787 231471787 single base substitution G A upstream_gene_variant UCEC-US 1 231472167 231472167 single base substitution G A upstream_gene_variant UCEC-US 1 231472303 231472303 single base substitution C T upstream_gene_variant UCEC-US 1 231472368 231472368 single base substitution G T upstream_gene_variant UCEC-US 1 231472608 231472608 single base substitution G A upstream_gene_variant UCEC-US 1 231473264 231473264 single base substitution C A 5_prime_UTR_variant UCEC-US 1 231473264 231473264 single base substitution C A upstream_gene_variant UCEC-US 1 231483639 231483639 single base substitution C T exon_variant UCEC-US 1 231483639 231483639 single base substitution C T intron_variant UCEC-US 1 231483639 231483639 single base substitution C T missense_variant R140C 418C>T UCEC-US 1 231483639 231483639 single base substitution C T missense_variant R36C 106C>T UCEC-US 1 231487083 231487083 single base substitution T C exon_variant UCEC-US 1 231487083 231487083 single base substitution T C missense_variant Y119H 355T>C UCEC-US 1 231487083 231487083 single base substitution T C missense_variant Y162H 484T>C UCEC-US 1 231487083 231487083 single base substitution T C missense_variant Y58H 172T>C UCEC-US 1 231487247 231487247 single base substitution G T exon_variant UCEC-US 1 231487247 231487247 single base substitution G T missense_variant E112D 336G>T UCEC-US 1 231487247 231487247 single base substitution G T missense_variant E173D 519G>T UCEC-US 1 231487247 231487247 single base substitution G T missense_variant E216D 648G>T UCEC-US 1 231488484 231488484 single base substitution G T 3_prime_UTR_variant UCEC-US 1 231488484 231488484 single base substitution G T downstream_gene_variant UCEC-US 1 231488484 231488484 single base substitution G T exon_variant UCEC-US 1 231488484 231488484 single base substitution G T missense_variant D179Y 535G>T UCEC-US 1 231488484 231488484 single base substitution G T missense_variant D283Y 847G>T UCEC-US 1 231488746 231488746 single base substitution G T 3_prime_UTR_variant UCEC-US 1 231488746 231488746 single base substitution G T downstream_gene_variant UCEC-US 1 231488746 231488746 single base substitution G T missense_variant R370I 1109G>T UCEC-US 1 231488759 231488759 single base substitution T G 3_prime_UTR_variant UCEC-US 1 231488759 231488759 single base substitution T G downstream_gene_variant UCEC-US 1 231488759 231488759 single base substitution T G synonymous_variant S374S 1122T>G UCEC-US 1 231488776 231488776 single base substitution G T 3_prime_UTR_variant UCEC-US 1 231488776 231488776 single base substitution G T downstream_gene_variant UCEC-US 1 231488776 231488776 single base substitution G T missense_variant R380I 1139G>T UCEC-US 1 231488782 231488782 single base substitution C A 3_prime_UTR_variant UCEC-US 1 231488782 231488782 single base substitution C A downstream_gene_variant UCEC-US 1 231488782 231488782 single base substitution C A missense_variant S382Y 1145C>A UCEC-US 1 231488860 231488860 single base substitution G A 3_prime_UTR_variant UCEC-US 1 231488860 231488860 single base substitution G A downstream_gene_variant UCEC-US 1 231488860 231488860 single base substitution G A missense_variant R408Q 1223G>A UCEC-US 1 231488899 231488899 single base substitution T G downstream_gene_variant UCEC-US 1 231488899 231488899 single base substitution T G missense_variant F421C 1262T>G UCEC-US 1 231488964 231488964 single base substitution A C downstream_gene_variant UCEC-US 1 231488964 231488964 single base substitution A C missense_variant N443H 1327A>C

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-F5-6814-01 COSM3418883 c.688A>C p.K230Q Substitution - Missense 1:231351541-231351541 + Pat_45_B COSM3804320 c.541G>A p.G181S Substitution - Missense 1:231351394-231351394 + BK0050 COSM4187918 c.556T>G p.S186A Substitution - Missense 1:231352759-231352759 + 95 COSM5010753 c.415C>T p.H139Y Substitution - Missense 1:231347890-231347890 + A9 COSM5350077 c.1107G>C p.Q369H Substitution - Missense 1:231352998-231352998 + TCGA-AD-6964-01 COSM1340086 c.657delA p.G222fs*7 Deletion - Frameshift 1:231351510-231351510 + TCGA-BR-4257-01 COSM4029454 c.505A>T p.I169F Substitution - Missense 1:231352708-231352708 + STC297 COSM1998452 c.806C>A p.P269H Substitution - Missense 1:231352697-231352697 + TCGA-B0-4712-01 COSM464140 c.1446A>G p.K482K Substitution - coding silent 1:231353337-231353337 + LIM2405 COSM4641693 c.789A>G p.T263T Substitution - coding silent 1:231352680-231352680 + TCGA-HU-A4H6-01 COSM4029455 c.979G>A p.V327I Substitution - Missense 1:231352870-231352870 + QC2-30-T2 COSM1998455 c.1256_1257insT p.I422fs*11 Insertion - Frameshift 1:231353147-231353148 + LUAD-S01302 COSM395833 c.432G>A p.L144L Substitution - coding silent 1:231347907-231347907 + OSCC-GB_00670111 COSM4883823 c.527G>A p.R176K Substitution - Missense 1:231351380-231351380 + TCGA-E2-A108-01 COSM425575 c.151C>T p.Q51* Substitution - Nonsense 1:231338534-231338534 + CSB1 COSM5025537 c.709G>C p.E237Q Substitution - Missense 1:231351562-231351562 + TCGA-G4-6307-01 COSM5176121 c.484_485insTAC p.L162_P163insL Insertion - In frame 1:231352687-231352688 + TCGA-AD-6964-01 COSM4335154 c.345delA p.G118fs*7 Deletion - Frameshift 1:231351510-231351510 + SW620 COSM1998458 c.1317C>G p.T439T Substitution - coding silent 1:231353208-231353208 + PT37 COSM5917420 c.1297G>A p.D433N Substitution - Missense 1:231353188-231353188 + PCSI_0024_Pa_C COSM216258 c.380G>A p.R127Q Substitution - Missense 1:231347855-231347855 + Gp2D COSM1998455 c.1256_1257insT p.I422fs*11 Insertion - Frameshift 1:231353147-231353148 + TCGA-A6-6653-01 COSM4335154 c.345delA p.G118fs*7 Deletion - Frameshift 1:231351510-231351510 + TCGA-CG-5721-01 COSM4029452 c.388T>G p.L130V Substitution - Missense 1:231351553-231351553 + TCGA-AA-3672-01 COSM266126 c.1247delT p.F417fs*11 Deletion - Frameshift 1:231353138-231353138 + PCSI_0024_Pa_X COSM216258 c.380G>A p.R127Q Substitution - Missense 1:231347855-231347855 + 2521243 COSM5886101 c.323C>T p.T108I Substitution - Missense 1:231347798-231347798 + TCGA-BS-A0UF-01 COSM905489 c.1122T>G p.S374S Substitution - coding silent 1:231353013-231353013 + RKO COSM1998430 c.245A>G p.E82G Substitution - Missense 1:231339792-231339792 + PCSI_0024_Pa_C COSM3377032 c.68G>A p.R23Q Substitution - Missense 1:231347855-231347855 + B65-Tumor COSM3930677 c.141A>G p.V47V Substitution - coding silent 1:231351306-231351306 + ESCC_151 COSM1998455 c.1256_1257insT p.I422fs*11 Insertion - Frameshift 1:231353147-231353148 + B23-Tumor COSM1748219 c.319G>A p.E107K Substitution - Missense 1:231339866-231339866 + TCGA-D8-A147-01 COSM425577 c.1094C>G p.S365C Substitution - Missense 1:231352985-231352985 + CRC-03T COSM5451248 c.191G>A p.R64H Substitution - Missense 1:231351356-231351356 + B23 COSM1748219 c.319G>A p.E107K Substitution - Missense 1:231339866-231339866 + TCGA-CM-5861-01 COSM5157814 c.391G>A p.A131T Substitution - Missense 1:231351556-231351556 + TCGA-BG-A0M4-01 COSM905485 c.484T>C p.Y162H Substitution - Missense 1:231351337-231351337 + sysucc-311T COSM5478185 c.305G>T p.R102I Substitution - Missense 1:231339852-231339852 + LUAD_E01086 COSM354747 c.56A>T p.E19V Substitution - Missense 1:231338439-231338439 + 95 COSM5010754 c.103C>T p.H35Y Substitution - Missense 1:231347890-231347890 + PD4255a COSM5774519 c.76C>T p.Q26* Substitution - Nonsense 1:231338459-231338459 + TCGA-F5-6814-01 COSM905486 c.648G>T p.E216D Substitution - Missense 1:231351501-231351501 + HCC25 COSM1601894 c.1158G>A p.T386T Substitution - coding silent 1:231353049-231353049 + B105-0 COSM1748218 c.216G>A p.M72I Substitution - Missense 1:231338599-231338599 + YUKAT COSM5380062 c.481G>A p.E161K Substitution - Missense 1:231351334-231351334 + TCGA-BS-A0UF-01 COSM905486 c.648G>T p.E216D Substitution - Missense 1:231351501-231351501 + TCGA-EU-5904-01 COSM464138 c.464T>G p.F155C Substitution - Missense 1:231351317-231351317 + PCSI_0024_Pa_X COSM3377032 c.68G>A p.R23Q Substitution - Missense 1:231347855-231347855 + TCGA-A8-A09Z-01 COSM3804321 c.229G>A p.G77S Substitution - Missense 1:231351394-231351394 + ZZUFHECRKL-G045T COSM5437858 c.425A>G p.N142S Substitution - Missense 1:231347900-231347900 + PT48 COSM5930743 c.260C>T p.P87L Substitution - Missense 1:231351425-231351425 + LS513 COSM1998455 c.1256_1257insT p.I422fs*11 Insertion - Frameshift 1:231353147-231353148 + TCGA-A8-A06U-01 COSM425578 c.1271A>G p.K424R Substitution - Missense 1:231353162-231353162 + B105-0-Tumor COSM1748218 c.216G>A p.M72I Substitution - Missense 1:231338599-231338599 + HN_63039 COSM127474 c.700T>C p.L234L Substitution - coding silent 1:231351553-231351553 + TCGA-AX-A05Z-01 COSM905494 c.1327A>C p.N443H Substitution - Missense 1:231353218-231353218 + TCGA-CD-A4MI-01 COSM4029448 c.44G>T p.W15L Substitution - Missense 1:231338427-231338427 + LIM2405 COSM4641694 c.477A>G p.T159T Substitution - coding silent 1:231352680-231352680 + ZZUFHECRKL-G045T COSM5437859 c.113A>G p.N38S Substitution - Missense 1:231347900-231347900 + TCGA-F5-6814-01 COSM3418884 c.376A>C p.K126Q Substitution - Missense 1:231351541-231351541 + CSCC-19-T COSM4529305 c.15G>C p.L5F Substitution - Missense 1:231338398-231338398 + TCGA-CM-5861-01 COSM1340087 c.703G>A p.A235T Substitution - Missense 1:231351556-231351556 + TCGA-AA-A00N-01 COSM274237 c.665G>A p.G222D Substitution - Missense 1:231351518-231351518 + TCGA-A8-A09Z-01 COSM3804320 c.541G>A p.G181S Substitution - Missense 1:231351394-231351394 + T3049 COSM1998456 c.1257delT p.F421fs*7 Deletion - Frameshift 1:231353148-231353148 + TCGA-CG-5721-01 COSM4029451 c.700T>G p.L234V Substitution - Missense 1:231351553-231351553 + TCGA-CM-5861-01 COSM1340085 c.419G>A p.R140H Substitution - Missense 1:231347894-231347894 + TCGA-EE-A3J5-06 COSM3485095 c.270C>T p.I90I Substitution - coding silent 1:231339817-231339817 + HX31T COSM3705624 c.933A>C p.K311N Substitution - Missense 1:231352824-231352824 + BK0050 COSM4187917 c.868T>G p.S290A Substitution - Missense 1:231352759-231352759 + IGROV-1 COSM1668563 c.32T>C p.L11P Substitution - Missense 1:231338415-231338415 + NB-1204 COSM1283767 c.1310G>A p.S437N Substitution - Missense 1:231353201-231353201 + JEKO-1 COSM1738444 c.11A>C p.D4A Substitution - Missense 1:231338394-231338394 + OSCC-GB_00670111 COSM4883824 c.215G>A p.R72K Substitution - Missense 1:231351380-231351380 + sysucc-834T COSM5485586 c.259C>T p.P87S Substitution - Missense 1:231351424-231351424 + TCGA-A6-6653-01 COSM1340086 c.657delA p.G222fs*7 Deletion - Frameshift 1:231351510-231351510 + 288 COSM3721044 c.228C>T p.Y76Y Substitution - coding silent 1:231351393-231351393 + 587342 COSM1198374 c.998C>A p.P333H Substitution - Missense 1:231352889-231352889 + B65-Tumor COSM3930676 c.453A>G p.V151V Substitution - coding silent 1:231351306-231351306 + TCGA-F5-6814-01 COSM3418882 c.336G>T p.E112D Substitution - Missense 1:231351501-231351501 + CRC-03T COSM5451247 c.503G>A p.R168H Substitution - Missense 1:231351356-231351356 + TCGA-HU-8249-01 COSM4029450 c.197A>G p.N66S Substitution - Missense 1:231351362-231351362 + T2269 COSM4667291 c.393T>C p.G131G Substitution - coding silent 1:231347868-231347868 + 585208 COSM324868 c.339G>C p.M113I Substitution - Missense 1:231347814-231347814 + YUSARI COSM1689962 c.1105C>T p.Q369* Substitution - Nonsense 1:231352996-231352996 + Pat_45_B COSM3804321 c.229G>A p.G77S Substitution - Missense 1:231351394-231351394 + TCGA-A8-A06X-01 COSM425579 c.1383T>A p.N461K Substitution - Missense 1:231353274-231353274 + SW480 COSM1998458 c.1317C>G p.T439T Substitution - coding silent 1:231353208-231353208 + TCGA-BS-A0UV-01 COSM905490 c.1139G>T p.R380I Substitution - Missense 1:231353030-231353030 + CRC-20T COSM5482417 c.1157C>T p.T386M Substitution - Missense 1:231353048-231353048 + PT48 COSM5930741 c.1465C>T p.L489F Substitution - Missense 1:231353356-231353356 + TCGA-CM-5861-01 COSM5157813 c.107G>A p.R36H Substitution - Missense 1:231347894-231347894 + P04-1084 COSM243326 c.1431A>T p.E477D Substitution - Missense 1:231353322-231353322 + PCSI_0024_Pa_P COSM216258 c.380G>A p.R127Q Substitution - Missense 1:231347855-231347855 + TCGA-JX-A3Q0-01 COSM4824909 c.61G>A p.E21K Substitution - Missense 1:231338444-231338444 + 2521243 COSM5886102 c.11C>T p.T4I Substitution - Missense 1:231347798-231347798 + Gp5D COSM1998455 c.1256_1257insT p.I422fs*11 Insertion - Frameshift 1:231353147-231353148 + TCGA-D5-6928-01 COSM1340090 c.1147T>C p.S383P Substitution - Missense 1:231353038-231353038 + T2269 COSM4667292 c.81T>C p.G27G Substitution - coding silent 1:231347868-231347868 + T2269 COSM4667290 c.141A>C p.A47A Substitution - coding silent 1:231338524-231338524 + TCGA-D1-A169-01 COSM905482 c.36G>T p.Q12H Substitution - Missense 1:231338419-231338419 + TCGA-BR-4257-01 COSM4029453 c.817A>T p.I273F Substitution - Missense 1:231352708-231352708 + TCGA-G4-6307-01 COSM1340088 c.796_797insTAC p.L266_P267insL Insertion - In frame 1:231352687-231352688 + TCGA-B8-5165-01 COSM464139 c.923G>A p.G308D Substitution - Missense 1:231352814-231352814 + TCGA-HU-8249-01 COSM4029449 c.509A>G p.N170S Substitution - Missense 1:231351362-231351362 + CSB1 COSM5025538 c.397G>C p.E133Q Substitution - Missense 1:231351562-231351562 + 288 COSM3721043 c.540C>T p.Y180Y Substitution - coding silent 1:231351393-231351393 + TCGA-D1-A103-01 COSM905487 c.847G>T p.D283Y Substitution - Missense 1:231352738-231352738 + HCC25T COSM1601894 c.1158G>A p.T386T Substitution - coding silent 1:231353049-231353049 + TCGA-CA-6718-01 COSM5144170 c.542T>G p.L181* Substitution - Nonsense 1:231352745-231352745 + TCGA-CA-6718-01 COSM1340089 c.854T>G p.L285* Substitution - Nonsense 1:231352745-231352745 + TCGA-BS-A0UV-01 COSM905492 c.1223G>A p.R408Q Substitution - Missense 1:231353114-231353114 + NPC7D COSM425575 c.151C>T p.Q51* Substitution - Nonsense 1:231338534-231338534 + TCGA-BS-A0UF-01 COSM905488 c.1109G>T p.R370I Substitution - Missense 1:231353000-231353000 + sysucc-834T COSM5485585 c.571C>T p.P191S Substitution - Missense 1:231351424-231351424 + ESO-K08 COSM1246642 c.1300C>T p.P434S Substitution - Missense 1:231353191-231353191 + TCGA-D1-A17M-01 COSM905484 c.418C>T p.R140C Substitution - Missense 1:231347893-231347893 + LC_C20 COSM1185784 c.1093T>G p.S365A Substitution - Missense 1:231352984-231352984 + CSCC-60-T COSM4520330 c.1053G>A p.R351R Substitution - coding silent 1:231352944-231352944 + PT48 COSM5930742 c.572C>T p.P191L Substitution - Missense 1:231351425-231351425 + TCGA-AX-A0J0-01 COSM905493 c.1262T>G p.F421C Substitution - Missense 1:231353153-231353153 + TCGA-AX-A05Z-01 COSM905491 c.1145C>A p.S382Y Substitution - Missense 1:231353036-231353036 + YUKAT COSM5380063 c.169G>A p.E57K Substitution - Missense 1:231351334-231351334 + TCGA-B5-A0K9-01 COSM905483 c.321G>T p.E107D Substitution - Missense 1:231339868-231339868 + TCGA-DK-A3IN-01 COSM3789635 c.193G>C p.E65Q Substitution - Missense 1:231338576-231338576 + STC297 COSM4233409 c.494C>A p.P165H Substitution - Missense 1:231352697-231352697 + 8051974 COSM3385890 c.1456G>A p.E486K Substitution - Missense 1:231353347-231353347 + PCSI0024 COSM216258 c.380G>A p.R127Q Substitution - Missense 1:231347855-231347855 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.554892 1q42.12-q43 1218365|dbSNP|BC068478|A/G|non-coding||2300|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AAA - IntronicDeletion . c.321+191_321+193delAAA 1 231475794 STAD A G Missense p.K424R c.1271A>G 1 231488908 BRCA A G Missense p.T121A c.361A>G 1 231483582 LUAD A G Synonymous p.K482K c.1446A>G 1 231489083 RCCC A T Missense p.I273F c.817A>T 1 231488454 STAD C G Missense p.S365C c.1094C>G 1 231488731 BRCA C G Synonymous p.L109L c.327C>G 1 231483548 BRCA C T Missense p.P434S c.1300C>T 1 231488937 ESCA C T Missense p.R140C c.418C>T 1 231483639 UCEC C T Nonsense p.Q51* c.151C>T 1 231474280 BRCA C T Synonymous p.I90I c.270C>T 1 231475563 CM G A IntronicSNV . c.222-169G>A 1 231475346 NSCLC G A Missense p.E486K c.1456G>A 1 231489093 HNSC G A Missense p.R127Q c.380G>A 1 231483601 PAAD G A Missense p.S437N c.1310G>A 1 231488947 NB G C Missense p.E237Q c.709G>C 1 231487308 BRCA G C Missense p.E65Q c.193G>C 1 231474322 BLCA G C Missense p.M113I c.339G>C 1 231483560 SCLC T A Missense p.N461K c.1383T>A 1 231489020 BRCA T C Missense p.S378P c.1132T>C 1 231488769 HNSC T C Missense p.Y162H c.484T>C 1 231487083 UCEC T C Synonymous p.L234L c.700T>C 1 231487299 HNSC - T Frameshift p.I422Yfs*11 c.1263dupT 1 231488894 STAD T G Missense p.F155C c.464T>G 1 231487063 RCCC